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StoneRounds Disease Atlas SR451

SR451

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Bardet Biedl Syndrome (IB2)

Female

Female

SR451

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Bardet Biedl Syndrome (IB2)

Female

Female

Visit at age: 42 years

Fundus Photography - Right - Hand Motion 1' sc

Exemplar

Fundus Photography - Left - Light Perception

Exemplar

Fundus Montage - Right - Hand Motion 1' sc

Exemplar

Fundus Montage - Left - Light Perception

Exemplar

Goldmann Visual Field - Right - Hand Motion 1' sc

Exemplar

Goldmann Visual Field - Left - Light Perception

Exemplar

Optical Coherence Tomography - Right - Hand Motion 1' sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1' sc

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Bardet Biedl Syndrome BBS2 Asp174Glu GAT>GAA Arg275Stop CGA>TGA AR
Disease:
Bardet Biedl Syndrome
Gene:
BBS2
Allele 1:
Asp174Glu GAT>GAA
Allele 2:
Arg275Stop CGA>TGA
Inheritance:
AR
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